Sickle Cell Disorder Referral Guidelines for Newborn Bloodspot Screening Wales Screening for Sickle Cell Disorder in Wales started on 1 June 2013
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1 Sickle Cell Disorder Referral Guidelines for Newborn Bloodspot Screening Wales Screening for Sickle Cell Disorder in Wales started on 1 June 2013 Version 1 December 2014
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3 Newborn Bloodspot Screening for Sickle Cell Disorder in Wales The method of screening for Sickle Cell Disorders in Wales is by Tandem Mass Spectrometry. The aim of screening is to identify only Sickle Cell Disorders and not to identify carriers of a Sickle Cell Disorder. Cut offs have been based on ratios between the abnormal to normal haemoglobin peptide abundances ie HbS/HbA, HbC/HbA, HbE/HbA, HbD Punjab /HbA, HbO Arab /HbA, and HbA/HbF (ß-thalassaemia). A post analytical data analysis protocol is used to identify only the clinically relevant Sickle Cell Disorders and the aim is that carrier infants are not identified. Those haemoglobin (Hb) variants for which there is evidence that early intervention is likely to be beneficial and which are therefore specified as part of the UK National Screening programme are the following: Sickle cell anemia (HbSS) Hb S/ß-thalassaemia* Hb S/HPFH Hb S/C disease HbS/D Punjab, HbS/E, Hb S/O Arab. *This is inclusive of Hb S/ß +, Hb S/ß 0, HbS/δß and Hb S/Lepore. The screening method and data analysis protocol has been approved by the UK NSC to be implemented in Wales.
4 Sickle Cell Disorder is suspected or other clinically relevant disorder is suspected Defining a positive screening result: Sickle Cell Disorder is suspected OR Sickle Cell Disorder Not suspected Other Disorder Follow-up If a sample from a baby is found to have an A:F or F:A ratio and peptide abundances outside the limits and/or an elevated S:A peptide ratio the sample is referred to the Cardiff Haemoglobinopathy Laboratory for further testing. If the Haemoglobinopathy Laboratory identifies a clinically relevant Sickle Cell Disorder then sickle cell disorder is suspected. Or If the Haemoglobinopathy Laboratory identifies a clinically relevant by-product eg ß-thalassaemia; HbE/ß-thalassaemia or HbCC disease then Sickle Cell Disorder is Not suspected Other Disorder follow-up is reported. Defining a positive screening result: Transfused baby with no pre-transfusion sample to test. Sickle Cell Disorder is suspected If a sample from a baby that has had a transfusion (either noted on the card or a high A:F ratio and low HbF abundance is identified) and there is no pretransfusion sample to test then the sample is sent for DNA HbS mutation testing. If DNA HbS mutation testing identifies a clinically relevant Sickle Cell Disorder then sickle cell disorder is suspected. Referral of babies with a positive screening result: Sickle Cell Disorder is suspected. The screening laboratory must inform the Paediatric Haematology Team that a baby has a positive screening result and Sickle Cell Disorder/Other Clinically Relevant Disorder is suspected, within one working day of the result being reported by the Haemoglobinopathy or DNA laboratory. The clinical referral must be both verbally (by telephone) as well as in writing by fax or .
5 A medical specialist team for Sickle Cell Disorder should comprise: A consultant Paediatric Haematologist (with cover in event of annual leave) A specialist paediatric haematology nurse The screening laboratory would also contact the identified local paediatrician to inform them of the screening result of the child for their information. First family contact It is the responsibility of a consultant/specialist nurse from the Paediatric Haematology Team at UHW to organise or undertake the initial contact with the family. This initial contact must be made within three working days of the result being reported to the Paediatric Haematology Team. Although ideally this initial contact would be face to face and include a health professional known to the family, it is recognised that this is difficult in reality within the short time period. The first contact should be verbally by a consultant/specialist nurse from the Paediatric Haematology team at UHW by telephone to explain the situation to the family, to give them initial advice, to reassure and to arrange a face to face follow up meeting. Ideally the Sickle Cell Disorder is suspected leaflet is made available to the parents (website or ed) The parents will be requested to bring the baby to the follow up appointment. It is the responsibility of a consultant/specialist nurse from the Paediatric Haematology Team at UHW to organise the referral of the baby to the appropriate specialist medical team. For babies resident in South Wales the specialist team
6 for follow up is based in University Hospital of Wales, Cardiff. For babies resident in Betsi Cadwaladr Health Board the specialist team for follow up is based in Liverpool. First follow up appointment For babies resident in mid Wales the specialist medical team for follow up is based in Birmingham. It is the responsibility of a consultant/specialist nurse to make contact with the baby s GP and Health Visitor to inform them of the screening results. The follow up appointment should be arranged within five working days. Confirmatory diagnostic samples should be collected at this visit. Samples for diagnostic testing should be sent to a specialist laboratory with expertise in haemoglobinopathy analysis in the newborn period. Premature babies with no HbA (<1.5%) need repeat testing. The information for the family should include SCD GP letter SCD is suspected or Other disorders leaflet Contact numbers for the specialist team Details of the time and location of the next appointment Confirmation of diagnosis is the responsibility of the Consultant to whom the baby has been referred. Penicillin prophylaxis should be started while waiting for clarification of diagnosis. Pneumococcal vaccine by 8 weeks of age or part of routine childhood vaccines. Outcome and results of any further tests undertaken MUST be communicated to the Newborn Screening Laboratory.
7 Sickle cell disorder carrier (HbS) is suspected These are cases that have been identified as a by-product of sickle cell disorder screening. Carrier of a Sickle Cell Disorder is suspected If a sample from a baby is found to have an A:F or F:A ratio and peptide abundances outside the limits and/or an elevated S:A peptide ratio the sample is referred to the Cardiff Haemoglobinopathy Laboratory for further testing. If the Haemoglobinopathy laboratory identifies the baby as a probable carrier of a sickle cell disorder then this information is communicated to the parents. Communication that the baby is a probable carrier of a Sickle Cell Disorder The Cardiff Newborn Screening Laboratory is to communicate with the Newborn Bloodspot Screening Coordinator within two working days of the result being reported by the Haemoglobinopathy or DNA laboratory. The Newborn Bloodspot Screening Coordinator is to make contact with the Health Visitor of the baby within three working days. The newborn bloodspot screening coordinator is to inform the Health Visitor that the baby has been identified as being a probable carrier of sickle cell disorder. The coordinator will also give the health visitor background information to enable them to be informed to give the results to the parents, and will reinforce that the child will not be clinically affected. The Health Visitor is asked to talk to the parents and to inform them of the results. A letter and information leaflet is sent to the Health Visitor to give more information.
8 A standard letter is prepared for the Health Visitor which informs them that the baby has been identified as being a probable carrier of sickle cell disorder and which also includes the baby s other screening results. The letter requests that the parents are informed of the results within 5 working days. This should be during a face to face visit. An information leaflet is also sent to the Health Visitor which includes contact details of the All Wales Medical Genetic Service that parents can be referred to if wanting further information or advice. The Health visitor should offer the parents referral to this service, and if wanted by parents, should make the referral according to the guidance in the information leaflet.
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